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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  2. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

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  3. Permanent muscle weakness in hypokalemic periodic paralysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome.
OriginalsprogEngelsk
TidsskriftJournal of Medical Genetics
Vol/bind48
Udgave nummer11
Sider (fra-til)737-40
Antal sider4
ISSN1468-6244
DOI
StatusUdgivet - 2011

ID: 33278203